Canonical Allele Identifier: CA645519850
Gene: PSEN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895462_226895463insTA , CM000663.2:g.226895462_226895463insTA GRCh38
NC_000001.10:g.227083163_227083164insTA , CM000663.1:g.227083163_227083164insTA GRCh37
NC_000001.9:g.225149786_225149787insTA NCBI36
NG_007381.1:g.29891_29892insTA
NG_012825.2:g.2927_2928insTA
NG_007381.2:g.30279_30280insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1230_1231insTA ENSP00000355741.2:p.Lys411Ter
ENST00000366782.6:c.1230_1231insTA ENSP00000355746.2:p.Lys411Ter
ENST00000366783.8:c.1230_1231insTA MANE Select ENSP00000355747.3:p.Lys411Ter
ENST00000471728.2:n.1868_1869insTA
ENST00000524196.6:c.1230_1231insTA ENSP00000429036.2:p.Lys411Ter
ENST00000626989.3:c.1230_1231insTA ENSP00000486498.2:p.Lys411Ter
ENST00000676467.1:c.*1057_*1058insTA ENSP00000504294.1:n.*1057_*1058insTA
ENST00000676747.1:c.1188+1337_1188+1338insTA ENSP00000503244.1:n.1188+1337_1188+1338insTA
ENST00000676884.1:c.1230_1231insTA ENSP00000503200.1:p.Lys411Ter
ENST00000676888.1:c.*571_*572insTA ENSP00000504483.1:n.*571_*572insTA
ENST00000676907.1:c.*809_*810insTA ENSP00000504410.1:n.*809_*810insTA
ENST00000676945.1:c.1191+1337_1191+1338insTA ENSP00000504433.1:n.1191+1337_1191+1338insTA
ENST00000677065.1:n.1791_1792insTA
ENST00000677414.1:c.1230_1231insTA ENSP00000503116.1:p.Lys411Ter
ENST00000677529.1:n.2960_2961insTA
ENST00000677596.1:c.*1452_*1453insTA ENSP00000503618.1:n.*1452_*1453insTA
ENST00000677599.1:c.1191+1337_1191+1338insTA ENSP00000503673.1:n.1191+1337_1191+1338insTA
ENST00000677748.1:n.3485_3486insTA
ENST00000677880.1:c.795_796insTA ENSP00000503121.1:p.Lys266Ter
ENST00000678021.1:c.*853_*854insTA ENSP00000504674.1:n.*853_*854insTA
ENST00000678233.1:c.1230_1231insTA ENSP00000504728.1:p.Lys411Ter
ENST00000678320.1:c.1131_1132insTA ENSP00000503680.1:p.Lys378Ter
ENST00000678655.1:c.1092+1337_1092+1338insTA ENSP00000504230.1:n.1092+1337_1092+1338insTA
ENST00000678706.1:c.*607_*608insTA ENSP00000503659.1:n.*607_*608insTA
ENST00000678776.1:c.*1367_*1368insTA ENSP00000504624.1:n.*1367_*1368insTA
ENST00000678784.1:c.1073-2258_1073-2257insTA ENSP00000504652.1:n.1073-2258_1073-2257insTA
ENST00000678820.1:c.1089+1337_1089+1338insTA ENSP00000504138.1:n.1089+1337_1089+1338insTA
ENST00000678835.1:c.*757-2258_*757-2257insTA ENSP00000504343.1:n.*757-2258_*757-2257insTA
ENST00000679088.1:c.1230_1231insTA ENSP00000504727.1:p.Lys411Ter
ENST00000679098.1:c.1230_1231insTA ENSP00000504303.1:p.Lys411Ter
ENST00000366782.5:c.1329_1330insTA ENSP00000355746.1:p.Lys444Ter
ENST00000366783.7:c.1230_1231insTA ENSP00000355747.3:p.Lys411Ter
ENST00000422240.6:c.1227_1228insTA ENSP00000403737.2:p.Lys410Ter
ENST00000471728.1:n.488_489insTA
ENST00000472139.2:c.798_799insTA ENSP00000427806.1:p.Lys267Ter
ENST00000626989.2:c.1329_1330insTA ENSP00000486498.1:p.Lys444Ter
NM_000447.2:c.1230_1231insTA NP_000438.2:p.Lys411Ter
NM_012486.2:c.1227_1228insTA NP_036618.2:p.Lys410Ter
XM_005273199.2:c.1230_1231insTA XP_005273256.1:p.Lys411Ter
XM_011544236.1:c.798_799insTA XP_011542538.1:p.Lys267Ter
XR_949149.1:n.1964_1965insTA
XM_005273199.4:c.1230_1231insTA XP_005273256.1:p.Lys411Ter
XM_017001835.1:c.1230_1231insTA XP_016857324.1:p.Lys411Ter
XM_017001836.1:c.1227_1228insTA XP_016857325.1:p.Lys410Ter
XR_001737316.2:n.1478-2258_1478-2257insTA
XR_001737317.2:n.1478-2258_1478-2257insTA
XR_001737318.2:n.1945_1946insTA
XR_001737319.1:n.2288_2289insTA
XR_001737320.1:n.2285_2286insTA
XR_001737321.1:n.1780_1781insTA
XR_949149.2:n.1942_1943insTA
XR_949150.3:n.2161_2162insTA
NM_000447.3:c.1230_1231insTA MANE Select NP_000438.2:p.Lys411Ter
NM_012486.3:c.1227_1228insTA NP_036618.2:p.Lys410Ter